ArticleHuman molecular genetics2012
The autoimmunity-associated BLK haplotype exhibits cis-regulatory effects on mRNA and protein expression that are prominently observed in B cells early in development.
Article in Human molecular genetics, 2012. The graph could read no effect estimate from its abstract, so it casts no vote on the map. Cited by 33 papers, 1 of them a synthesis that pooled it.
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The abstract states no effect estimate the extractor could read, or names no intervention and outcome on the map, so this paper lights no cell and moves no belief. It is still indexed, cited and linked below.
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Who cites it
33 citing papers in PubMed, 1 synthesis or guideline pooled it, 49 citations in OpenAlex.
- Association between BLK polymorphisms and susceptibility to SLE : A meta-analysis.Zeitschrift fur Rheumatologie · 2017Pooled it
- Non-receptor tyrosine kinase signaling pathways and therapeutic implications.Signal transduction and targeted therapy · 2026Review
- Cross-Trait Genome-Wide Association Study Identifies Shared Genetic Architecture Between COPD and Retinal Vascular Phenotypes.International journal of chronic obstructive pulmonary disease · 2026Article
- Low-frequency and rare genetic variants associated with rheumatoid arthritis risk.Nature reviews. Rheumatology · 2024Review
- BLK positively regulates TLR/IL-1R signaling by catalyzing TOLLIP phosphorylation.The Journal of cell biology · 2024Article
- Tyrosine phosphorylation of IRF3 by BLK facilitates its sufficient activation and innate antiviral response.PLoS pathogens · 2023Article
- Modeling of horizontal pleiotropy identifies possible causal gene expression in systemic lupus erythematosus.Frontiers in lupus · 2023Article
- A risk variant for Barrett's esophagus and esophageal adenocarcinoma at chr8p23.1 affects enhancer activity and implicates multiple gene targets.Human molecular genetics · 2022Article
- Haplotype-specific chromatin looping reveals genetic interactions of regulatory regions modulating gene expression in 8p23.1.Frontiers in genetics · 2022Article
- Hygiene Hypothesis as the Etiology of Kawasaki Disease: Dysregulation of Early B Cell Development.International journal of molecular sciences · 2021Review
- Review
- Association ofFrontiers in genetics · 2020Article
- BLK and BANK1 polymorphisms and interactions are associated in Mexican patients with systemic lupus erythematosus.Inflammation research : official journal of the European Histamine Research Society ... [et al.] · 2019Article
- Functional rare and low frequency variants in BLK and BANK1 contribute to human lupus.Nature communications · 2019Article
- The Post-GWAS Era: How to Validate the Contribution of Gene Variants in Lupus.Current rheumatology reports · 2019Review
- The rheumatic disease-associated FAM167A-BLK locus encodes DIORA-1, a novel disordered protein expressed highly in bronchial epithelium and alveolar macrophages.Clinical and experimental immunology · 2018Article
- CD4+ and B Lymphocyte Expression Quantitative Traits at Rheumatoid Arthritis Risk Loci in Patients With Untreated Early Arthritis: Implications for Causal Gene Identification.Arthritis & rheumatology (Hoboken, N.J.) · 2018Article
- Plasma Cell Differentiation Pathways in Systemic Lupus Erythematosus.Frontiers in immunology · 2018Review
- DNA-reactive B cells in lupus.Current opinion in immunology · 2016Review
- Recent Advances in Defining the Genetic Basis of Rheumatoid Arthritis.Annual review of genomics and human genetics · 2016Review
Corrections and comments
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Authors and funding
9 authors at 2 institutions in 1 country.
Funding
Abstract
The gene B lymphocyte kinase (BLK) is associated with rheumatoid arthritis, systemic lupus erythematosus and several other autoimmune disorders. The disease risk haplotype is known to be associated with reduced expression of BLK mRNA transcript in human B cell lines; however, little is known about cis-regulation of BLK message or protein levels in native cell types. Here, we show that in primary human B lymphocytes, cis-regulatory effects of disease-associated single nucleotide polymorphisms in BLK are restricted to naïve and transitional B cells. Cis-regulatory effects are not observed in adult B cells in later stages of differentiation. Allelic expression bias was also identified in primary human T cells from adult peripheral and umbilical cord blood (UCB), thymus and tonsil, although mRNA levels were reduced compared with B cells. Allelic regulation of Blk expression at the protein level was confirmed in UCB B cell subsets by intracellular staining and flow cytometry. Blk protein expression in CD4(+) and CD8(+) T cells was documented by western blot analysis; however, differences in protein expression levels by BLK genotype were not observed in any T cell subset. Blk allele expression differences at the protein level are thus restricted to early B cells, indicating that the involvement of Blk in the risk for autoimmune disease likely acts during the very early stages of B cell development.
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Registered trials
Read under generation 80e0d062 · epoch 390. Bibliography from PubMed, PubMed Central and OpenAlex; grants from NIH RePORTER; trial links from ClinicalTrials.gov; estimates, votes and beliefs from the OpenQuestion graph.